Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
Transcription factors with Perturb-seq knockdown data for NAGPA. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = NAGPA upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of NAGPA, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr16:4,733,836–4,735,221 | 299.5 kb | Distal (>10kb) Multiome | 858 | |
| chr16:4,766,728–4,767,628 | 266.7 kb | Distal (>10kb) Multiome | 795 | |
| chr16:4,768,438–4,769,162 | 265.1 kb | Distal (>10kb) Multiome | 677 | |
| chr16:4,801,836–4,803,175 | 231.6 kb | Distal (>10kb) Multiome | 743 | |
| chr16:4,846,559–4,848,209 | 186.5 kb | Distal (>10kb) Multiome | 803 | |
| chr16:4,936,143–4,937,673 | 96.6 kb | Distal (>10kb) Multiome | 655 | |
| chr16:4,943,173–4,943,813 | 90.5 kb | Distal (>10kb) Multiome | 609 | |
| chr16:4,957,489–4,958,782 | 75.8 kb | Distal (>10kb) Multiome | 802 | |
| chr16:5,010,592–5,011,132 | 23.1 kb | Distal (>10kb) Multiome | 136 | |
| chr16:5,033,461–5,034,081 | 32 bp | At TSS Multiome | 932 | |
| chr16:5,035,406–5,035,666 | 1.5 kb | Proximal (<10kb) | 371 | |
| chr16:5,036,959–5,037,100 | 3.0 kb | Proximal (<10kb) | 172 | |
| chr16:5,071,693–5,072,259 | 38.0 kb | Distal (>10kb) Multiome | 940 | |
| chr16:5,097,069–5,098,979 | 64.2 kb | Distal (>10kb) Multiome | 638 | |
| chr16:5,213,262–5,213,748 | 179.5 kb | Distal (>10kb) Multiome | 34 | |
| chr16:5,239,557–5,240,083 | 205.8 kb | Distal (>10kb) Multiome | 57 |
Genomic view of the NAGPA locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.